Application Information: HFE2 antibody

Not tested in other applications. *Optimal dilutions/concentrations should be determined by the researcher.

Predicted Target Size

45 kDa (note)

Form Supplied

Liquid

Concentration

1.0
mg/ml
(Please refer to the vial label for the specific concentration)

Purification

Purified by affinity chromatography

Specifications: HFE2 antibody

Full Name

hemochromatosis type 2 (juvenile)

Background

The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Jul 2008]